Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems [PDF]
, 2016 Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated ...
Agrawal +92 more
core +3 more sources
Peliosis hepatis. Personal experience and literature review [PDF]
, 2015 Peliosis hepatis (PH) is a disease characterized by multiple and small, blood-filled cysts within the parenchymatous organs. PH is a very rare disease, more common in adults, and when it affects the liver, it comes to the surgeon’s attention only in ...
Crocetti, Daniele +5 more
core +1 more source
Molecular Therapy: Nucleic Acids, 2023 Dynamin 2 (DNM2) is a ubiquitously expressed GTPase regulating membrane trafficking and cytoskeleton dynamics. Heterozygous dominant mutations in DNM2 cause centronuclear myopathy (CNM), associated with muscle weakness and atrophy and histopathological ...
Juliana de Carvalho Neves +3 more
doaj +1 more source
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm [PDF]
, 2008 Dysregulation of calcium signals because of defects of the skeletal muscle sarcoplasmic reticulum calcium release channel (ryanodine receptor; RyR1) is causative of several congenital muscle disorders including malignant hyperthermia (MH; MIM #145600 ...
Jungbluth, Heinz +3 more
core +1 more source
Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
Nature Communications, 2017 X-linked myotubular myopathy is caused by mutations in the gene coding for myotubularin 1, and is characterized by overexpression of dynamin 2. Here the authors develop antisense oligonucleotides to dynamin 2, and show that systemic injection leads to ...
Hichem Tasfaout +9 more
doaj +1 more source
Anti-AAV Antibodies in AAV Gene Therapy: Current Challenges and Possible Solutions
Frontiers in Immunology, 2021 Adeno-associated virus (AAV) vector-based gene therapy is currently the only in vivo gene therapy approved in the US and Europe. The recent tragic death of three children in a clinical trial to treat X-Linked Myotubular Myopathy by delivering ...
Thomas Weber, Thomas Weber
doaj +1 more source
Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy
Nature Communications, 2018 X-linked myotubular myopathy (XLMTM) is a severe muscle disease with no effective treatment. Here, the authors show that tamoxifen, a drug used to treat breast cancer, rescues the pathology in a mouse model of the disease, at least in part by normalizing
Elinam Gayi +10 more
doaj +1 more source
Sbf/MTMR13 coordinates PI(3)P and Rab21 regulation in endocytic control of cellular remodeling. [PDF]
, 2012 Cells rely on the coordinated regulation of lipid phosphoinositides and Rab GTPases to define membrane compartment fates along distinct trafficking routes.
Cox, Sarah +4 more
core +1 more source
Congenital Myopathy in Lowe Syndrome
Pediatric Neurology Briefs, 1990 Congeni tal fiber type disproportion myopathy is described in two brothers with oculo-cerebro-renal syndrome of Lowe from the Department of Pediatrics, Tsuchiura Kyoudou Hospital; Ibaraki; Tsukuba University; Tokyo Medical and Dental University; and ...
J Gordon Millichap
doaj +1 more source
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. [PDF]
PLoS Genetics, 2012 Myotubularin MTM1 is a phosphoinositide (PPIn) 3-phosphatase mutated in X-linked centronuclear myopathy (XLCNM; myotubular myopathy). We investigated the involvement of MTM1 enzymatic activity on XLCNM phenotypes.
Leonela Amoasii +11 more
doaj +1 more source